Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

57 matching diseasesClear search ×

Smith-McCort dysplasia

ORPHA:178355

Specific language disorder

Dysphasia

ORPHA:211053

SPONASTRIME dysplasia

Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type

ORPHA:93357

Spondylodysplastic dysplasia

ORPHA:93434

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654

Supratip dysplasia

ORPHA:466695

Thanatophoric dysplasia

TD

ORPHA:2655

Thoracomelic dysplasia

Rivera-Perez-Salas syndrome · Thoracolimb dysplasia, Rivera type

ORPHA:1803

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia

ORPHA:228379